IDUA, alpha-L-iduronidase, 3425

N. diseases: 258; N. variants: 110
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3822020
rs3822020 		4 991939 splice region variant A/G snv 0.67 0.66
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs6831280
rs6831280 		0.925 0.080 4 1002377 missense variant G/A;C snv 0.17
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6831280
rs6831280 		0.925 0.080 4 1002377 missense variant G/A;C snv 0.17
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs6831280
rs6831280 		0.925 0.080 4 1002377 missense variant G/A;C snv 0.17
CUI: C0029459
Disease: Osteoporosis, Senile
Osteoporosis, Senile 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6831280
rs6831280 		0.925 0.080 4 1002377 missense variant G/A;C snv 0.17
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		Wounds and Injuries 0.010 1.000 1 2019 2019
dbSNP: rs3755955
rs3755955 		0.925 0.080 4 1000626 missense variant G/A;C snv 0.16; 8.0E-06
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.700 1.000 1 2012 2012
dbSNP: rs3755955
rs3755955 		0.925 0.080 4 1000626 missense variant G/A;C snv 0.16; 8.0E-06
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2012 2012
dbSNP: rs3755955
rs3755955 		0.925 0.080 4 1000626 missense variant G/A;C snv 0.16; 8.0E-06
CUI: C0029459
Disease: Osteoporosis, Senile
Osteoporosis, Senile 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3755955
rs3755955 		0.925 0.080 4 1000626 missense variant G/A;C snv 0.16; 8.0E-06
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs148775298
rs148775298 		4 987896 missense variant C/G snv 2.9E-03 3.7E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs121965019
rs121965019 		0.851 0.120 4 1002747 stop gained G/A snv 5.9E-04 8.4E-04
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.740 1.000 17 1992 2016
dbSNP: rs121965019
rs121965019 		0.851 0.120 4 1002747 stop gained G/A snv 5.9E-04 8.4E-04
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.740 1.000 8 1992 2014
dbSNP: rs121965019
rs121965019 		0.851 0.120 4 1002747 stop gained G/A snv 5.9E-04 8.4E-04
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 1992 2018
dbSNP: rs121965019
rs121965019 		0.851 0.120 4 1002747 stop gained G/A snv 5.9E-04 8.4E-04
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 6 1992 2014
dbSNP: rs121965019
rs121965019 		0.851 0.120 4 1002747 stop gained G/A snv 5.9E-04 8.4E-04
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs142573758
rs142573758 		1.000 0.080 4 991538 missense variant C/T snv 5.6E-04 6.0E-04
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121965020
rs121965020 		0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.730 1.000 17 1992 2014
dbSNP: rs121965020
rs121965020 		0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.740 1.000 10 1992 2013
dbSNP: rs121965020
rs121965020 		0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 5 1992 2018
dbSNP: rs121965020
rs121965020 		0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 1992 2013
dbSNP: rs121965020
rs121965020 		0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2006 2006
dbSNP: rs121965020
rs121965020 		0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2006 2006
dbSNP: rs148832260
rs148832260 		1.000 0.080 4 989866 missense variant G/A snv 2.8E-04 3.1E-04
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121965025
rs121965025 		0.925 0.120 4 1004292 stop gained C/G;T snv 2.8E-04; 2.8E-05
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 1995 2016
dbSNP: rs121965025
rs121965025 		0.925 0.120 4 1004292 stop gained C/G;T snv 2.8E-04; 2.8E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 1994 2013